The Genomic Functional Analysis Section (GFAS) identifies and characterizes novel functional elements embedded in genomic sequences and addresses the role of epigenetic dys-regulation in human tumors. Since 2005, Dr. Elnitski has led a group pioneering both experimental and computational approaches to discern and validate uncharacterized regulatory components of the human genome. Most notably, the group produced a new method for assessing the activity of silencer elements embedded within the 98 percent of the genome that contains noncoding sequences. These assessment methods, or assays, were utilized as part of the ENCODE (Encyclopedia of DNA Elements) Consortium project, of which Dr. Elnitski has been a member since its inception as a pilot project in 2003. Furthering efforts toward discovery of important elements within the human genome, Dr. Elnitski and her group have mapped thousands of bidirectional promoters across five vertebrate species to identify and explain common core mechanisms of gene regulation in mammals and to narrow the search for the origin of human-specific genes in the genome.

In 2010, they identified a set of more than 1,000 genes whose expression was limited to primates and originated through the activity of bidirectional promoters as divergent transcription products. By extending the computational analysis of noncoding regulatory elements into the realm of regulated splicing, team members produced a predictive suite of software programs to detect previously unrecognized regulators. The unique locationof the regulators within coding exons meant that disruption by sequence variants could lead to exon skipping and protein dysfunction. The software tools were made publically available on a web server (Skippy) and further used by the group to find evidence of synonymous substitutions in CFTR that disrupt normal splicing patterns and play a likely role in cystic fibrosis and melanoma. Most recently, the central role of epigenetics in genomic studies has motivated Dr. Elnitski to address the role of aberrant DNA methylation in tumor samples, both as a means to understand the mechanistic properties of DNA methylation in gene regulation and to advance diagnostic and therapeutic approaches to cancer treatment.

Biography

Laura Elnitski obtained her B.S. in molecular and cellular biology at The Pennsylvania State University (Penn State), with specialty research in chemical engineering. She obtained a Ph.D. in biochemistry and molecular biology, also at Penn State, while pursuing one of the first projects to look at multi-species comparisons of noncoding regulatory elements. She was awarded a Ruth L. Kirschstein National Research Service Award fellowship from the National Institutes of Health for postdoctoral training in the Department of Computer Science and Engineering at Penn State where she focused on the development and interpretation of multispecies genomic alignments to detect conserved regulatory regions.

Dr. Elnitski joined the National Human Genome Research Institute in 2005 as a tenure track investigator. She has participated in numerous genome sequencing projects including mouse, rat, cow and chicken, as well as the ENCODE Consortium to elucidate functional elements in the human genome. Her work specializes in developing tools to identify and discern the mechanistic action of functional elements in the human genome, including promoters, enhancers, silencers, splicing elements and epigenetic regulators. She received an Outstanding Research Achievement Award at the International Symposium on Bioinformatics, Research and Applications, Harvard University in 2007, and was selected for a Genome Technology International Young Investigator Award in 2009.

In 2013, Dr. Elnitski was awarded the Faculty Mentoring Award at NHGRI. She serves as a standing member of the Genomics and Computational Biology Study Section of the NIH.